Figure 6.

Comparison of the Expression of CTSB, FDFT1, and NEIL2 and Abundance of CTSB in Skin from KWE-Affected Individuals and Ethnically Matched Control Individuals

(A) Quantitative real-time PCR was used for determining the expression of CTSB, FDFT1, and NEIL2 in RNA samples isolated from epidermal tissue of the skin biopsies obtained from eight Norwegian and five South African individuals. Affected and control individuals are shown as closed and open circles, respectively. For each gene, the individual expression levels are given as a fold change relative to the mean value for all healthy control individuals (both Norwegian and South African). The p values were calculated with the Mann-Whitney U test, including all healthy control individuals (n = 7) and all KWE-affected individuals (n = 6).

(B) Immunohistochemistry showing H&E staining (upper panels) of palmar skin biopsies of a healthy control individual (left) and KWE-affected individual (right). Abbreviations are as follows: SC, stratum corneum; SL, stratum lucidum; SG, stratum granulosum; SS, stratum spinosum; SB, stratum basale; and D, dermis. The scale bar represents 50 μm. Note the increased epidermal thickness of the KWE skin. Lower panels show CTSB staining of serial sections of the same individuals. CTSB is present in a granular pattern in the stratum spinosum of control and KWE skin. Note that CTSB staining is absent in the stratum granulosum of control skin, whereas it is abundant in the stratum granulosum of KWE-affected skin.